Clubfoot - MemberClicks · Congenital Talipes Equinocavovarus Definition Congenital talipes equinocavovarus Latin, talipes- talus, ankle + pes, foot ; equino-cavo-varus Congenital,

ClubfootAHAMED MOHAIDEEN, M.D.

ORTHOPEDIC CENTER OF PALM BEACH COUNTY

Clubfoot

Congenital Talipes Equinocavovarus

Definition

Congenital talipes equinocavovarus

Latin, talipes- talus, ankle + pes, foot ; equino-cavo-varus

Congenital, contractural malalignment

4 sections

C- Cavus (high medial arch)- forefoot is plantarflexed in relation to the hindfoot

A- Adductus of the forefoot at the midfoot level

V- Varus/Inverted subtalar joint complex (Hindfoot is in varus)

E- Hindfoot equinus

Hindfoot varus positioning

Cavus foot position

Adductus position

Hindfoot in varus position

Types

Idiopathic- normal child with clubfoot issues only

Postural- resolves spontaneously with no Tx or with 1 to 2 casts

Can probably watch and see natural progression

Neurogenic- related to myelomeningocele

Syndromic- clubfoot seen with other anomalies as well

Neurogenic and Syndromic are less likely to respond to non-operative

techniques or tend to recur

Syndromes associated with clubfoot

Arthrogryposis

Constriction Bands

Prune Belly

Tibial hemimelia

Mobius syndrome

Freeman-Sheldon Syndrome- Whistling face

Diastrophic dwarfism

Larsen Syndrome

Opitz Syndrome

Pierre Robin Syndrome

Epidemiology

1-2 per 1000 commonly quoted

Variable by population groups

Nordic (e.g., Sweden)- 0.93 to 1.5

Asian- 0.6 per 1000

Western Australia- 0.9

Polynesians, Hawaiians, Maori- 6.8

Family relations

What is the chance that it can happen in a family that already has a case of clubfoot?

Occurs 17 times higher in first-degree relatives

Sharing 50% of genetic material- parents, children, siblings

Occurs 6 times higher for second- degree relatives

Aunts, Uncles, grandparents, grandchildren, nieces, nephews, half-siblings

Occurs same incidence as general population for third degree relatives

Great-grandparents, Great grandchildren, Great uncles/aunts, First cousins

Wynn-Davies, JBJS (Br) 1964, Clin Orthop Relat Res 1972

Can this happen again in a family?

Yes.

Unaffected parents

One son with clubfoot- 1 in 40 chance of another son with clubfoot

But, subsequent daughter- unlikely to be affected

One daughter with clubfoot- 1 in 16 chance of a son with clubfoot and 1 in 40 chance of another daughter with clubfoot

One affected parent and one affected child

1 in 4 chance of another child having disorder

Etiology

Heterogenous, Multifactorial inheritance

Some suggestion of single gene, two alleles plus other un-identified factors

Proposed theories

In utero molding

Primary muscle lesion

Primary bone deformity (germ plasm)

Primary vascular lesion

Intrauterine enteroviral infection

Developmental arrest

Primary nerve lesion

Abnormal tendon insertion

Retracting fibrosis

Abnormal histology

Environmental Factors

Do they alter genetic expression?

Cigarette smoking

Increased risk if smoking during pregnancy

Risk increased with higher number cigarettes smoked per day

Family history plus smoking- particularly higher

Genetics

Chromosome 12q24.31 between NCOR2 and ZNF664- single nucleotide

polymorphisms

Zhang TX et al, J Med Genet 2014 May

Transcription factors and transcriptional regulators: PITX1

Dobbs, 2013, 2014

Signs

Cavus

Adductus (Inversion of subtalar joint- between talus and calcaneus)

Varus

Equinus

Varying severity- flexible to rigid

Equinus and Cavus foot positions

Signs (continued)

Single large (or Double) posterior ankle crease

Empty heel pad sign- cannot feel calcaneus

Transverse medial crease (midfoot)

Palpable head of talus- dorsolateral over midfoot region just distal to

ankle joint

Smaller foot and calf – “clubleg”

Clubleg

Adductus component

Adductus

component

with curvature

of lateral border

of foot and

medial crease

Signs (continued)

LLD- greater than 0.5 cm

18% if unilateral clubfoot

4% if bilateral clubfoot

May have higher internal hip rotation – 10 degrees or more

Why is this important?

Intoeing in a clubfoot patient may be due to hip rotation NOT recurrence of a

treated clubfoot

Watch for the syndromic and neurogenic patients

Classifications

Dimeglio

Pirani

Most common referred to in literature

Dimeglio is probably most reproducible

Point systems with each feature summed up to give a composite score

which reflects severity of the involved foot

Other described classification schemes- Catteral, Harold and Walker,

Ponseti and Smoley

DiMeglio Classification

Radiographic Studies

Not required for diagnosis and management

Poor reproducibility of foot positioning

“Forced dorsiflexion” AP and lateral

Foot is held in maximum dorsiflexion while x-rays are taken

In utero ultrasound

Recognition is 0.1% to 0.4%

Low false-negative

False-positive- 30 to 40%

Functional false-positive- correctible passively after delivery (Positional clubfoot)

Further intrauterine evaluation

Controversial if amniocentesis is required with identified, isolated clubfoot

deformity

To identify syndromic presentation

Recognize additional abnormalities

Orthopedic consultation

For family counseling regarding etiology, treatment, prognosis

Pathoanatomy

Malalignment of bones at the joints

How?

Partly deformation of the bones themselves

Natural History

Untreated clubfoot

Rigid

Callus with bursa develops on the dorsolateral aspect

Hyperflexed midfoot

Extreme case- toes point backwards during ambulation

May be functional with a prosthesis

Pain more with hard floors and sidewalks

Untreated Clubfoot

Untreated clubfoot- dorsolateral callus

Untreated clubfoot x-ray

Treatment

Non-operative Treatment

To achieve a plantigrade, supple, painless foot with normal appearance

To avoid special shoe wear

Hiram Kite (Kite casting technique)

Poor long term results

Long-term immobilization

Ignacio Ponseti (Ponseti casting technique)

“French” Method

Inpatient admission

Serial strapping and physical therapy manipulations

Ignacio Ponseti

• Started in 1940s

• University of Iowa

• Mid 1990’s began to be more accepted

• Cooper and Dietz- long term, 34 year follow up of the Ponseti

technique

Treatment- Ponseti technique

Serial casting

Average 4 to 8 casts

Has been shown to be effective even up to age 9!

Gentle manipulations/castings

Starting even several months after birth may lead to similar outcomes

Fiberglass shown to be superior to plaster of Paris for:

Durability, convenience, performance, ease of removal.

Has been performed by lay individuals (no formal medical training)

Ponseti Casting

Note first cast:

midfoot/

forefoot is

addressed first

Note final cast:

hindfoot now

dorsiflexed and in

valgus position

Foot Abduction Orthosis and the Cast Knife

Adjustable bar for length Cast knife for cast removal

Posteromedial Release

Bibliography

www.genome.gov (NIH- NHGRI- National Institutes of Health- National Human Geome Research Institute)

www.cancer.gov (NIH- NCI- National Institutes of Health- National Cancer Institute)

www.law.cornell.edu- 29 CFR 1635.3- Definitions specific to GINA.

A method for the early evaluation of the Ponseti (Iowa) technique for the treatment of idiopathic clubfoot. Lehman WB, Mohaideen A, Madan S, ScherDM, Van Bosse HJ, Iannacone M, Bazzi JS, Feldman DS. J Pediatr Orthop B. 2003 Mar; 12(2): 133-40

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development. Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA. Eur J Hum Genet. 2013 Apr; 21(4):373-80

Bibliography

Genome-wide association study identifies new disease loci for isolated

clubfoot. Zhang TX, Haller G, Lin P, Alvarado DM, Hecht JT, Blanton SH,

Stephens Richards B, Rice JP, Dobbs MB, Gurnett CA. J Med Genet. 2014

May;51(5):334-9.

Lovell and Winter Pediatric Orthopaedics, 7th ed., editors Stuart Weinstein,

Jack Flynn

Photos and DiMeglio chart courtesy of:

Personal collections of Ahamed Mohaideen, M.D., Ezra Berkowitz, M.D.,

Wallace B. Lehman, M.D., Alain DiMeglio, M.D.

Special Thanks to:

Dr. Ezra Berkowitz